A9V (p.Ala9Val) variant of PCCB (P05166)
A9V (p.Ala9Val) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD rs1339178920
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available